SWGLH Requesting a genomic test for haematological malignancy

Eligible haematological malignancies and the available tests are shown in the National Genomic Test Directory for Cancer (NGTD).

• The NGTD indicates several possible alternative tests for some indications. Regional policy about the best test for each indication is being devised by the SWGLH and the haematological malignancy Cancer Alliance Advisory Groups (CAG)

Where possible, samples for diagnostic or monitoring genomic tests should be collected alongside other samples for the regional Specialist Integrated Haematological Malignancy Service (SIHMDS).

• Please ensure that you verify the identity of the patient prior to taking the sample.
• Bone marrow aspirate is the preferred substrate for Haematological malignancy testing.
• Blood or other tissue may be suitable where sufficient (>20%) involvement is identified e.g. for acute leukaemia with a high circulating blast count. Pleural fluid or other tissue with a malignant infiltrate may also be suitable but should be discussed with the SWGLH, contact information below
• 1-2ml of bone marrow aspirate or 5-10ml of blood collected into EDTA is required for direct mutation, molecular monitoring or gene panel tests
• 1-2ml of bone marrow aspirate or 5-10ml of blood collected into lithium heparin or heparinised media is required for karyotype and FISH

 All samples for genomic testing for haematological malignancy should be accompanied by a fully completed 

Regional BHODS Request Form v3 (nbt.nhs.uk)

You will then need to transport samples and request form to the SWGLH

• To maintain clinically useful test turnaround times, samples should be transported urgently to the SWGLH for processing and testing.
  • For samples requiring RNA analysis there is a 72 hour cut-off for receipt of samples as reliable quantitation is not possible from follow-up samples older than 72 hours. Samples received that are older than 72 hours will not be processed and a repeat sample will be requested.
• Samples will usually be sent internally to the local pathology specimen reception and, then onwards, to the SWGLH at the Bristol Genetics laboratory site, using the rapid transport routes that have been established from all SW Trusts.
• Refer to the Sample requirement and Test Pages for this information

Turnaround times (TATs) for genomic tests are continually refined through the ongoing review of testing standards by NHSE, the SWGLH and CAG working groups.

• As a guide, example current TATs are:
  • PML-RARA FISH <24 hours
  • BCR-ABL1 PCR, ALL FISH <3 days
  • Urgent karyotype/FISH <7 days
  • Urgent gene panel, direct mutation tests, CML monitoring <14 days
  • Routine karyotype, FISH, panel <21 days